Canonical Allele Identifier: CA1220601831

Gene: USH2A USH2A-AS1

Linked Data

• dbSNP Id: rs2035131455
• gnomAD v4: 1-216207145-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207149_216207150del , CM000663.2:g.216207149_216207150del	GRCh38
NC_000001.10:g.216380491_216380492del , CM000663.1:g.216380491_216380492del	GRCh37
NC_000001.9:g.214447114_214447115del	NCBI36
NG_009497.1:g.221250_221251del
NG_009497.2:g.221302_221303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3316+126_3316+127del (USH2A) MANE Select	ENSP00000305941.3:n.3316+126_3316+127del
ENST00000674083.1:c.3316+126_3316+127del (USH2A)	ENSP00000501296.1:n.3316+126_3316+127del
ENST00000307340.7:c.3316+126_3316+127del (USH2A)	ENSP00000305941.3:n.3316+126_3316+127del
ENST00000366942.3:c.3316+126_3316+127del (USH2A)	ENSP00000355909.3:n.3316+126_3316+127del
NM_007123.5:c.3316+126_3316+127del (USH2A)	NP_009054.5:n.3316+126_3316+127del
NM_206933.2:c.3316+126_3316+127del (USH2A)	NP_996816.2:n.3316+126_3316+127del
XR_922596.1:n.354+11224_354+11225del (USH2A-AS1)
XR_922597.1:n.354+11224_354+11225del (USH2A-AS1)
XR_922596.3:n.1076+11224_1076+11225del (USH2A-AS1)
NM_206933.3:c.3316+126_3316+127del (USH2A)	NP_996816.2:n.3316+126_3316+127del
NM_007123.6:c.3316+126_3316+127del (USH2A)	NP_009054.6:n.3316+126_3316+127del
NM_206933.4:c.3316+126_3316+127del (USH2A) MANE Select	NP_996816.3:n.3316+126_3316+127del